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Trisomy (1q) (q42→qter): confirmation of a syndrome
Clinical Genetics, 1988This paper describes for the first time the clinical findings in a case of pure trisomy (1q)(q42→qter). Eight cases involving this trisomy have been reported previously, but these were complicated by additional chromosomal changes, and hence the assignation of a discrete phenotype remained doubtful.
Chia, N. L. +3 more
exaly +4 more sources
Clinical findings on three closely related, severely malformed infants and a 20‐week‐old fetus with an identical partial trisomy of chromosome 1 (1q42→ter) have made possible the delineation of a new syndrome. The typical manifestations of this syndrome are: severe intrauterine and postnatal developmental retardation, trigonocephaly with wide sutures ...
J. Leisti, P. Aula
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Terminal deletion of (1)(q42) and its phenotypical manifestations
Human Genetics, 1978A 5-year-old male with multiple malformations (dwarfism, microcephalia with brachycephalic shape of skull, mongoloid lid axis, epicanthus, convergent strabismus, flat root of the nose, micrognathia, missing uvula, deformed low-set ears, hypoplastic genitals, and general hypotonia), severe mental retardation, and cerebral paroxysms caused by a partial ...
M, Andrle, A, Erlach, W R, Mayr, A, Rett
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The Minor Planet Electronic Circulars contain information on unusual minor planets, routine data on comets and natural satellites, and occasional editorial announcements. They are published on behalf of Division F of the International Astronomical Union by the Minor Planet Center, Smithsonian Astrophysical Observatory, Cambridge, MA 02138, U.S.A.
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Dup(lq)(q42→qter) syndrome: Case report and review of literature
American Journal of Medical Genetics, 1993AbstractWe report on a patient with primordial growth retardation, mental retardation, and minor anomalies (triangular face, open sagittal suture, frontal bossing, telecanthus, upturned nose, micrognathia, and small mouth with downturned corners). The diagnosis of Russell‐Silver syndrome (RSS) had been considered but was abandoned when cytogenetic ...
Ingo Kennerknecht +2 more
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